Varaico: Literature-Extracted Genetic Variants

Gene:LAMA1
Variant:p.R1391delFs
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LAMA1

NM_005559.4:p.R1391delFs

Associated Papers

An Early Diagnostic Clue for COL18A1- and LAMA1-Associated Diseases: High Myopia With Alopecia Areata in the Cranial Midline.

Wang P et al.

Frontiers in Cell and Developmental Biology, 2021

Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome.

Powell L et al.

Brain Communications, 2021

34423300 (PubMed )
Supplement: fcab163_Supplementary_Data.zip › Manuscript_original_submission.pdf
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